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Items: 12

1.
The Noonan Syndrome gene Lztr1 controls cardiovascular function by regulating vesicular trafficking
R. Sewduth, S. Pandolfi, M. Steklov, A. Sheryazdanova, P. Zhao, N. Criem, M.F. Baietti, B. Lechat, R. Quarck, F. Impens, A.A. Sablina
Circ Res. Author manuscript; available in PMC 2021 Nov 8.
Published in final edited form as: Circ Res. 2020 May 8; 126(10): 1379–1393. Published online 2020 Mar 16. doi: 10.1161/CIRCRESAHA.119.315730
PMCID:
PMC8575076
AbstractArticlePDF–1.5M
2.
Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination
M. Steklov, S. Pandolfi, M. F. Baietti, A. Batiuk, P. Carai, P. Najm, M. Zhang, H. Jang, F. Renzi, Y. Cai, L. Abbasi Asbagh, T. Pastor, M. De Troyer, M. Simicek, E. Radaelli, H. Brems, E. Legius, J. Tavernier, K. Gevaert, F. Impens, L. Messiaen, R. Nussinov, S. Heymans, S. Eyckerman, A. A. Sabina
Science. Author manuscript; available in PMC 2021 Apr 21.
Published in final edited form as: Science. 2018 Dec 7; 362(6419): 1177–1182. Published online 2018 Nov 15. doi: 10.1126/science.aap7607
PMCID:
PMC8058620
AbstractArticlePDF–1.1M
3.
RIT1 oncoproteins escape LZTR1-mediated proteolysis
Pau Castel, Alice Cheng, Antonio Cuevas-Navarro, David B. Everman, Alex G. Papageorge, Dhirendra K. Simanshu, Alexandra Tankka, Jacqueline Galeas, Anatoly Urisman, Frank McCormick
Science. Author manuscript; available in PMC 2020 Jan 28.
Published in final edited form as: Science. 2019 Mar 15; 363(6432): 1226–1230. doi: 10.1126/science.aav1444
PMCID:
PMC6986682
AbstractArticlePDF–1.1M
4.
The novel testicular enrichment protein Cfap58 is required for Notch-associated ciliogenesis
Zheng-Zheng Li, Wen-Long Zhao, Gui-Shuan Wang, Ni-Hao Gu, Fei Sun
Biosci Rep. 2020 Jan 31; 40(1): BSR20192666. Published online 2020 Jan 17. doi: 10.1042/BSR20192666
PMCID:
PMC6970087
AbstractArticlePDF–2.4M
5.
LZTR1 is a regulator of RAS ubiquitination and signaling
Johannes W. Bigenzahn, Giovanna M. Collu, Felix Kartnig, Melanie Pieraks, Gregory I. Vladimer, Leonhard X. Heinz, Vitaly Sedlyarov, Fiorella Schischlik, Astrid Fauster, Manuele Rebsamen, Katja Parapatics, Vincent A. Blomen, André C. Müller, Georg E. Winter, Robert Kralovics, Thijn R. Brummelkamp, Marek Mlodzik, Giulio Superti-Furga
Science. Author manuscript; available in PMC 2019 Oct 15.
Published in final edited form as: Science. 2018 Dec 7; 362(6419): 1171–1177. Published online 2018 Nov 15. doi: 10.1126/science.aap8210
PMCID:
PMC6794158
AbstractArticlePDF–1.9M
6.
Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis
Camille Louvrier, Eric Pasmant, Audrey Briand-Suleau, Joëlle Cohen, Patrick Nitschké, Juliette Nectoux, Lucie Orhant, Cécile Zordan, Cyril Goizet, Stéphane Goutagny, Dominique Lallemand, Michel Vidaud, Dominique Vidaud, Michel Kalamarides, Béatrice Parfait
Neuro Oncol. 2018 Jun; 20(7): 917–929. Published online 2018 Feb 2. doi: 10.1093/neuonc/noy009
PMCID:
PMC6007397
AbstractArticlePDF–1.1M
7.
Comprehensive and Integrative Genomic Characterization of Hepatocellular Carcinoma
The Cancer Genome Atlas Research Network, David A. Wheeler, Lewis R. Roberts
Cell. Author manuscript; available in PMC 2018 Jun 15.
Published in final edited form as: Cell. 2017 Jun 15; 169(7): 1327–1341.e23. doi: 10.1016/j.cell.2017.05.046
PMCID:
PMC5680778
AbstractArticlePDF–1.8M
8.
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas
Arkadiusz Piotrowski, Jing Xie, Ying F Liu, Andrzej B Poplawski, Alicia R Gomes, Piotr Madanecki, Chuanhua Fu, Michael R Crowley, David K Crossman, Linlea Armstrong, Dusica Babovic-Vuksanovic, Amanda Bergner, Jaishri O Blakeley, Andrea L Blumenthal, Molly S Daniels, Howard Feit, Kathy Gardner, Stephanie Hurst, Christine Kobelka, Chung Lee, Rebecca Nagy, Katherine A Rauen, John M Slopis, Pim Suwannarat, Judith A Westman, Andrea Zanko, Bruce R Korf, Ludwine M Messiaen
Nat Genet. Author manuscript; available in PMC 2015 Mar 7.
Published in final edited form as: Nat Genet. 2014 Feb; 46(2): 182–187. Published online 2013 Dec 22. doi: 10.1038/ng.2855
PMCID:
PMC4352302
AbstractArticlePDF–1.1M
9.
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis
Miriam J. Smith, Bertand Isidor, Christian Beetz, Simon G. Williams, Sanjeev S. Bhaskar, Wilfrid Richer, James O'Sullivan, Beverly Anderson, Sarah B. Daly, Jill E. Urquhart, Alan Fryer, Cecilie F. Rustad, Samantha J. Mills, Amir Samii, Daniel du Plessis, Dorothy Halliday, Sebastien Barbarot, Franck Bourdeaut, William G. Newman, D. Gareth Evans
Neurology. 2015 Jan 13; 84(2): 141–147. doi: 10.1212/WNL.0000000000001129
PMCID:
PMC4336087
AbstractArticlePDF–412K
10.
The integrated landscape of driver genomic alterations in glioblastoma
Veronique Frattini, Vladimir Trifonov, Joseph Minhow Chan, Angelica Castano, Marie Lia, Francesco Abate, Stephen T. Keir, Alan X. Ji, Pietro Zoppoli, Francesco Niola, Carla Danussi, Igor Dolgalev, Paola Porrati, Serena Pellegatta, Adriana Heguy, Gaurav Gupta, David J. Pisapia, Peter Canoll, Jeffrey N. Bruce, Roger E. McLendon, Hai Yan, Ken Aldape, Gaetano Finocchiaro, Tom Mikkelsen, Gilbert G. Privé, Darell D. Bigner, Anna Lasorella, Raul Rabadan, Antonio Iavarone
Nat Genet. Author manuscript; available in PMC 2014 Apr 1.
Published in final edited form as: Nat Genet. 2013 Oct; 45(10): 1141–1149. Published online 2013 Aug 5. doi: 10.1038/ng.2734
PMCID:
PMC3799953
AbstractArticlePDF–1.1M
11.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
12.
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences
Mammalian Gene Collection (MGC) Program Team
Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899
PMCID:
PMC139241
AbstractArticlePDF–118K

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